Hypophosphatasia: an overview of the disease and its treatment

Osteoporos Int. 2015 Dec;26(12):2743-57. doi: 10.1007/s00198-015-3272-1. Epub 2015 Aug 6.

This review presents the current knowledge on hypophosphatasia, a rare genetic disease of very variable severity (from lethal to mild) and clinical presentation, caused by defective production of tissue-non-specific alkaline phosphatase (TNSALP).